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European Journal of Pediatrics

Erschienen in:

02.02.2024 | RESEARCH

Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis

verfasst von: Yu Zhang, Jiechao Niu, Jiandong Wang, Aojie Cai, Yao Wang, Guangshuai Wei, Huaili Wang

Erschienen in: European Journal of Pediatrics | Ausgabe 4/2024

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Abstract

Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy.

Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes.

Graphical Abstract

What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30–57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear.
What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.

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Rihani HT, Dalvin LA, Hodge DO, Pulido JS (2020) Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States. Ophthalmic Genet 41:108–124. https://doi.org/10.1080/13816810.2020.1731834CrossRefPubMedPubMedCentral

Ha A, Kim SH, Baek SU, Kim JS, Yoon HJ, Kim YK (2023) Incidence of Sturge-Weber syndrome and risk of secondary glaucoma: a nationwide population-based study using a rare disease registry. Am J Ophthalmol 247:121–126. https://doi.org/10.1016/j.ajo.2022.11.009CrossRefPubMed

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971–1979. https://doi.org/10.1056/NEJMoa1213507CrossRefPubMedPubMedCentral

Yeom S, Comi AM (2022) Updates on Sturge-Weber syndrome. Stroke 53:3769–3779. https://doi.org/10.1161/STROKEAHA.122.038585CrossRefPubMed

Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, Burkhart C, Chugani HT, Falchek SJ, Jain BG et al (2021) Consensus statement for the management and treatment of Sturge-Weber syndrome: neurology, neuroimaging, and ophthalmology recommendations. Pediatr Neurol 121:59–66. https://doi.org/10.1016/j.pediatrneurol.2021.04.013CrossRefPubMedPubMedCentral

Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viano J (2008) Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci 35:301–307. https://doi.org/10.1017/s0317167100008878CrossRefPubMed

Jagtap S, Srinivas G, Harsha KJ, Radhakrishnan N, Radhakrishnan A (2013) Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J Child Neurol 28:725–731. https://doi.org/10.1177/0883073812451326CrossRefPubMed

Sudarsanam A, Ardern-Holmes SL (2014) Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 18:257–266. https://doi.org/10.1016/j.ejpn.2013.10.003CrossRefPubMed

Davico C, D’Alessandro R, Borgogno M, Campagna F, Torta F, Ricci F, Amianto F, Vittorini R, Carli D, Mussa A et al (2022) Epilepsy in a cohort of children with Noonan syndrome and related disorders. Eur J Pediatr 181:2919–2926. https://doi.org/10.1007/s00431-022-04497-6CrossRefPubMed

10.

Fattorusso A, Matricardi S, Mencaroni E, Dell’Isola GB, Di Cara G, Striano P, Verrotti A (2021) The Pharmacoresistant Epilepsy: an overview on existant and new emerging therapies. Front Neurol 12. https://doi.org/10.3389/fneur.2021.674483

11.

Luat AF, Behen ME, Chugani HT, Juhasz C (2018) Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: effect of age at seizure onset and side of brain involvement. Epilepsy Behav 80:202–207. https://doi.org/10.1016/j.yebeh.2018.01.012CrossRefPubMedPubMedCentral

12.

Wu J, Tarabishy B, Hu J, Miao Y, Cai Z, Xuan Y, Behen M, Li M, Ye Y, Shoskey R et al (2011) Cortical calcification in Sturge-Weber syndrome on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn Reson Imaging 34:791–798. https://doi.org/10.1002/jmri.22687CrossRefPubMedPubMedCentral

13.

Wang DD, Blumcke I, Coras R, Zhou WJ, Lu DH, Gui QP, Hu JX, Zuo HC, Chen SY, Piao YS (2015) Sturge-Weber syndrome is associated with cortical dysplasia ILAE type IIIc and excessive hypertrophic pyramidal neurons in brain resections for intractable epilepsy. Brain Pathol 25:248–255. https://doi.org/10.1111/bpa.12172CrossRefPubMed

14.

Roach ES (1988) Diagnosis and management of neurocutaneous syndromes. Semin Neurol 8:83–96. https://doi.org/10.1055/s-2008-1041360CrossRefPubMed

15.

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshe SL et al (2017) ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia 58:512–521. https://doi.org/10.1111/epi.13709CrossRefPubMedPubMedCentral

16.

Jafarpour S, Hirsch LJ, Gainza-Lein M, Kellinghaus C, Detyniecki K (2019) Seizure cluster: definition, prevalence, consequences, and management. Seizure-Eur J Epilep 68:9–15. https://doi.org/10.1016/j.seizure.2018.05.013CrossRef

17.

Day AM, McCulloch CE, Hammill AM, Juhasz C, Lo WD, Pinto AL, Miles DK, Fisher BJ, Ball KL, Wilfong AA et al (2019) Physical and family history variables associated with neurological and cognitive development in Sturge-Weber syndrome. Pediatr Neurol 96:30–36. https://doi.org/10.1016/j.pediatrneurol.2018.12.002CrossRefPubMed

18.

Kelley TM, Hatfield LA, Lin DD, Comi AM (2005) Quantitative analysis of cerebral cortical atrophy and correlation with clinical severity in unilateral Sturge-Weber syndrome. J Child Neurol 20:867–870. https://doi.org/10.1177/08830738050200110201CrossRefPubMed

19.

Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen HW, Mathern G, Moshe SL, Perucca E, Wiebe S, French J (2010) Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE Commission on therapeutic strategies. Epilepsia 51:1069–1077. https://doi.org/10.1111/j.1528-1167.2009.02397.xCrossRefPubMed

20.

Sujansky E, Conradi S (1995) Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 10:49–58. https://doi.org/10.1177/088307389501000113CrossRefPubMed

21.

Wang S, Pan J, Zhao M, Wang X, Zhang C, Li T, Wang M, Wang J, Zhou J, Liu C et al (2022) Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber syndrome. Brain 145:3431–3443. https://doi.org/10.1093/brain/awab470CrossRefPubMed

22.

Bianchi F, Auricchio AM, Battaglia DI, Chieffo D, Massimi L (2020) Sturge-Weber syndrome: an update on the relevant issues for neurosurgeons. Childs Nerv Syst 36:2553–2570. https://doi.org/10.1007/s00381-020-04695-3CrossRefPubMed

23.

Comi AM (2011) Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist 17:179–184. https://doi.org/10.1097/NRL.0b013e318220c5b6CrossRefPubMedPubMedCentral

24.

Gallop F, Fosi T, Prabhakar P, Aylett SE (2019) Flunarizine for headache prophylaxis in children with Sturge-Weber syndrome. Pediatr Neurol 93:27–33. https://doi.org/10.1016/j.pediatrneurol.2018.11.012CrossRefPubMed

25.

Arkush L, Prabhakar P, Scott RC, Aylett SE (2020) Headache in children with Sturge-Weber syndrome - prevalence, associations and impact. Eur J Paediatr Neurol 27:43–48. https://doi.org/10.1016/j.ejpn.2020.05.001CrossRefPubMed

26.

Cho S, Maharathi B, Ball KL, Loeb JA, Pevsner J (2019) Sturge-Weber syndrome patient registry: delayed diagnosis and poor seizure control. J. Pediatr-US 215:158–163. https://doi.org/10.1016/j.jpeds.2019.08.025CrossRef

27.

Maton B, Krsek P, Jayakar P, Resnick T, Koehn M, Morrison G, Ragheb J, Castellano-Sanchez A, Duchowny M (2010) Medically intractable epilepsy in Sturge-Weber syndrome is associated with cortical malformation: implications for surgical therapy. Epilepsia 51:257–267. https://doi.org/10.1111/j.1528-1167.2009.02304.xCrossRefPubMed

28.

Luat AF, Juhasz C, Loeb JA, Chugani HT, Falchek SJ, Jain B, Greene-Roethke C, Amlie-Lefond C, Ball KL, Davis A et al (2019) Neurological complications of Sturge-Weber syndrome: current status and unmet needs. Pediatr Neurol 98:31–38. https://doi.org/10.1016/j.pediatrneurol.2019.05.013CrossRefPubMed

29.

Comi A (2015) Current therapeutic options in Sturge-Weber syndrome. Semin Pediatr Neurol 22:295–301. https://doi.org/10.1016/j.spen.2015.10.005CrossRefPubMedPubMedCentral

30.

Bachur CD, Comi AM (2013) Sturge-weber syndrome. Curr Treat Options Neurol 15:607–617. https://doi.org/10.1007/s11940-013-0253-6CrossRefPubMedPubMedCentral

31.

Tillmann RP, Ray K, Aylett SE (2020) Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery. Eur J Paediatr Neurol 25:90–96. https://doi.org/10.1016/j.ejpn.2019.11.001CrossRefPubMed

32.

Comi AM (2007) Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients. Expert Rev Neurother 7:951–956. https://doi.org/10.1586/14737175.7.8.951CrossRefPubMed

33.

Aylett SE, Neville BG, Cross JH, Boyd S, Chong WK, Kirkham FJ (1999) Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. Dev Med Child Neurol 41:480–485CrossRefPubMed

34.

Bay MJ, Kossoff EH, Lehmann CU, Zabel TA, Comi AM (2011) Survey of aspirin use in Sturge-Weber syndrome. J Child Neurol 26:692–702. https://doi.org/10.1177/0883073810388646CrossRefPubMed

35.

Lance EI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM (2013) Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol 28:213–218. https://doi.org/10.1177/0883073812463607CrossRefPubMed

36.

Udani V, Pujar S, Munot P, Maheshwari S, Mehta N (2007) Natural history and magnetic resonance imaging follow-up in 9 Sturge-Weber syndrome patients and clinical correlation. J Child Neurol 22:479–483. https://doi.org/10.1177/0883073807300526CrossRefPubMed

37.

Day AM, Hammill AM, Juhasz C, Pinto AL, Roach ES, McCulloch CE, Comi AM (2019) Hypothesis: presymptomatic treatment of Sturge-Weber syndrome with aspirin and antiepileptic drugs may delay seizure onset. Pediatr Neurol 90:8–12. https://doi.org/10.1016/j.pediatrneurol.2018.04.009CrossRefPubMed

38.

Haut SR (2015) Seizure clusters: characteristics and treatment. Curr Opin Neurol 28:143–150. https://doi.org/10.1097/WCO.0000000000000177CrossRefPubMed

39.

Powell S, Fosi T, Sloneem J, Hawkins C, Richardson H, Aylett S (2021) Neurological presentations and cognitive outcome in Sturge-Weber syndrome. Eur J Paediatr Neurol 34:21–32. https://doi.org/10.1016/j.ejpn.2021.07.005CrossRefPubMed

40.

Haut SR, Shinnar S, Moshe SL, O’Dell C, Legatt AD (1999) The association between seizure clustering and convulsive status epilepticus in patients with intractable complex partial seizures. Epilepsia 40:1832–1834. https://doi.org/10.1111/j.1528-1157.1999.tb01607.xCrossRefPubMed

41.

Ferastraoaru V, Schulze-Bonhage A, Lipton RB, Dumpelmann M, Legatt AD, Blumberg J, Haut SR (2016) Termination of seizure clusters is related to the duration of focal seizures. Epilepsia 57:889–895. https://doi.org/10.1111/epi.13375CrossRefPubMed

42.

Haut SR, Shinnar S, Moshe SL (2005) Seizure clustering: risks and outcomes. Epilepsia 46:146–149. https://doi.org/10.1111/j.0013-9580.2005.29004.xCrossRefPubMed

43.

Chen B, Choi H, Hirsch LJ, Katz A, Legge A, Wong RA, Jiang A, Kato K, Buchsbaum R, Detyniecki K (2017) Prevalence and risk factors of seizure clusters in adult patients with epilepsy. Epilepsy Res 133:98–102. https://doi.org/10.1016/j.eplepsyres.2017.04.016CrossRefPubMed

44.

Sillanpaa M, Schmidt D (2008) Seizure clustering during drug treatment affects seizure outcome and mortality of childhood-onset epilepsy. Brain 131:938–944. https://doi.org/10.1093/brain/awn037CrossRefPubMed

45.

Kavanaugh B, Sreenivasan A, Bachur C, Papazoglou A, Comi A, Zabel TA (2016) [Formula: see text] Intellectual and adaptive functioning in Sturge-Weber syndrome. Child Neuropsychol 22:635–648. https://doi.org/10.1080/09297049.2015.1028349CrossRefPubMed

46.

Hatfield LA, Crone NE, Kossoff EH, Ewen JB, Pyzik PL, Lin DD, Kelley TM, Comi AM (2007) Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge-Weber syndrome. Epilepsia 48:191–195. https://doi.org/10.1111/j.1528-1167.2006.00630.xCrossRefPubMed

47.

Offermann EA, Sreenivasan A, DeJong MR, Lin D, McCulloch CE, Chung MG, Comi AM (2017) Reliability and clinical correlation of transcranial Doppler ultrasound in Sturge-Weber syndrome. Pediatr Neurol 74:15–23. https://doi.org/10.1016/j.pediatrneurol.2017.04.026CrossRefPubMedPubMedCentral

48.

Alkonyi B, Chugani HT, Karia S, Behen ME, Juhasz C (2011) Clinical outcomes in bilateral Sturge-Weber syndrome. Pediatr Neurol 44:443–449. https://doi.org/10.1016/j.pediatrneurol.2011.01.005CrossRefPubMedPubMedCentral

49.

Bosnyak E, Behen ME, Guy WC, Asano E, Chugani HT, Juhasz C (2016) Predictors of cognitive functions in children with Sturge-Weber syndrome: a longitudinal study. Pediatr Neurol 61:38–45. https://doi.org/10.1016/j.pediatrneurol.2016.05.012CrossRefPubMedPubMedCentral

Titel: Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis
verfasst von: Yu Zhang
Jiechao Niu
Jiandong Wang
Aojie Cai
Yao Wang
Guangshuai Wei
Huaili Wang
Publikationsdatum: 02.02.2024
Verlag: Springer Berlin Heidelberg
Erschienen in: European Journal of Pediatrics / Ausgabe 4/2024
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-024-05448-z

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Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis

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